Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.V77A

IDUA

727 papers

RefSeq Summary

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal d...

Pfam Domains

Glyco_hydro_39aa 30–525UCSCGlycosyl hydrolases family 39
Glyco_hydro_39_Caa 552–640UCSCAlpha-L-iduronidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-iduronidase

HGNC Alias Symbols

MPS1; MPSI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000203.5
p.V77A
c.230T>C
Surrounding Variants
1 paper
NM_000203.5
p.Y76*
c.228T>A
1 paper
NM_000203.5
p.Y76*
c.228T>G
9 papers
NM_000203.5
p.Y76C
c.227A>G
2 papers
NM_000203.5
p.G78D
c.233G>A
23 papers
NM_000203.5
p.A79T
c.235G>A
2 papers
NM_000203.5
p.A79_H82delFs
c.236_246del11
19 papers
NM_000203.5
p.A79V
c.236C>T
24 papers
NM_000203.5
p.A75T
c.223G>A
7 papers
NM_000203.5
p.A75P
c.223G>C
1 paper
NM_000203.5
p.V80_P81ins5
c.238_242ins15
1 paper
NM_000203.5
p.L74fs
c.220_221fs
1 paper
NM_000203.5
p.V80V
c.240C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."